Incidental Mutation 'R1005:Rab28'
ID 95609
Institutional Source Beutler Lab
Gene Symbol Rab28
Ensembl Gene ENSMUSG00000029128
Gene Name RAB28, member RAS oncogene family
Synonyms 2700023P08Rik
MMRRC Submission 039115-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # R1005 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 41782319-41865500 bp(-) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 41855726 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144440 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031011] [ENSMUST00000201422] [ENSMUST00000202913]
AlphaFold Q99KL7
Predicted Effect probably benign
Transcript: ENSMUST00000031011
SMART Domains Protein: ENSMUSP00000031011
Gene: ENSMUSG00000029128

DomainStartEndE-ValueType
Pfam:Arf 3 177 1.1e-13 PFAM
Pfam:Roc 14 133 9e-28 PFAM
Pfam:Gtr1_RagA 14 178 3.2e-7 PFAM
Pfam:Ras 14 179 3.3e-40 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000201422
SMART Domains Protein: ENSMUSP00000144541
Gene: ENSMUSG00000029128

DomainStartEndE-ValueType
small_GTPase 10 180 1.3e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000202913
SMART Domains Protein: ENSMUSP00000144440
Gene: ENSMUSG00000029128

DomainStartEndE-ValueType
Pfam:Arf 3 176 6e-14 PFAM
Pfam:Roc 14 133 4.8e-28 PFAM
Pfam:Gtr1_RagA 14 177 1.7e-7 PFAM
Pfam:Ras 14 179 1.8e-40 PFAM
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.5%
  • 20x: 90.5%
Validation Efficiency 100% (41/41)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the Rab subfamily of Ras-related small GTPases. The encoded protein may be involved in regulating intracellular trafficking. Alternative splicing results in multiple transcript variants. Pseudogenes of this gene are found on chromosomes 9 and X. [provided by RefSeq, Apr 2009]
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T C 8: 25,155,530 (GRCm39) D163G probably benign Het
Adck1 G A 12: 88,368,872 (GRCm39) V117M probably damaging Het
Amph G A 13: 19,326,198 (GRCm39) V643M probably damaging Het
Anpep C T 7: 79,488,004 (GRCm39) E518K probably benign Het
Anxa6 A T 11: 54,892,044 (GRCm39) M304K possibly damaging Het
Aox1 A G 1: 58,104,511 (GRCm39) T563A probably benign Het
AW551984 G A 9: 39,505,029 (GRCm39) Q488* probably null Het
Cbx2 A G 11: 118,919,400 (GRCm39) R322G probably benign Het
Csmd1 T A 8: 16,338,707 (GRCm39) T467S probably damaging Het
Cspg4 A G 9: 56,796,020 (GRCm39) I1252V probably benign Het
Enah A T 1: 181,789,495 (GRCm39) probably benign Het
Fam171a2 T C 11: 102,331,007 (GRCm39) M185V probably benign Het
Flt1 G T 5: 147,618,695 (GRCm39) N213K probably damaging Het
Fpr-rs3 T C 17: 20,844,346 (GRCm39) N265S probably benign Het
Gbp2 T C 3: 142,336,262 (GRCm39) probably benign Het
Gm6871 A T 7: 41,195,682 (GRCm39) C352S probably damaging Het
Gm9742 T C 13: 8,085,251 (GRCm39) noncoding transcript Het
Iars1 T C 13: 49,840,921 (GRCm39) I18T possibly damaging Het
Kel T C 6: 41,665,551 (GRCm39) Y523C probably damaging Het
Klk1b8 T A 7: 43,603,758 (GRCm39) C198* probably null Het
Mc3r A G 2: 172,091,483 (GRCm39) H235R probably benign Het
Nr0b2 G T 4: 133,280,785 (GRCm39) R17L probably benign Het
Or1a1b A G 11: 74,097,962 (GRCm39) F27L probably benign Het
Prl7a1 G A 13: 27,826,429 (GRCm39) P2L possibly damaging Het
Prrt3 G A 6: 113,471,739 (GRCm39) A811V probably damaging Het
Rhobtb2 A G 14: 70,035,726 (GRCm39) L115P probably damaging Het
Robo4 A G 9: 37,319,547 (GRCm39) E599G probably damaging Het
Ros1 T A 10: 52,004,501 (GRCm39) probably benign Het
Slc22a27 A T 19: 7,904,116 (GRCm39) L7Q probably damaging Het
Slfn5 T A 11: 82,850,984 (GRCm39) L427H probably damaging Het
Smarcad1 C T 6: 65,085,711 (GRCm39) H890Y probably benign Het
Snx31 A G 15: 36,517,837 (GRCm39) probably benign Het
Sptb C T 12: 76,648,633 (GRCm39) probably null Het
Stard9 C A 2: 120,504,117 (GRCm39) S221R probably damaging Het
Ston2 T C 12: 91,615,622 (GRCm39) D262G possibly damaging Het
Trank1 T G 9: 111,162,789 (GRCm39) M16R probably benign Het
Trrap A G 5: 144,742,537 (GRCm39) E1385G probably damaging Het
Ttc8 T C 12: 98,903,403 (GRCm39) S47P probably benign Het
Other mutations in Rab28
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00587:Rab28 APN 5 41,860,799 (GRCm39) missense probably benign 0.30
IGL01125:Rab28 APN 5 41,793,237 (GRCm39) missense probably benign 0.01
IGL01413:Rab28 APN 5 41,855,790 (GRCm39) missense probably damaging 1.00
R1606:Rab28 UTSW 5 41,855,795 (GRCm39) missense probably damaging 1.00
R1940:Rab28 UTSW 5 41,783,133 (GRCm39) missense probably benign 0.00
R6243:Rab28 UTSW 5 41,793,223 (GRCm39) missense probably benign 0.00
R6875:Rab28 UTSW 5 41,860,877 (GRCm39) missense probably damaging 1.00
R6977:Rab28 UTSW 5 41,855,735 (GRCm39) nonsense probably null
R7727:Rab28 UTSW 5 41,865,313 (GRCm39) missense probably damaging 1.00
R9419:Rab28 UTSW 5 41,793,182 (GRCm39) missense possibly damaging 0.93
Predicted Primers PCR Primer
(F):5'- TTTCCACCAAACCATTGCAAATGTAGTC -3'
(R):5'- TCTGACCATGTAAATGTGCAGAACACAG -3'

Sequencing Primer
(F):5'- tgggaggcagaagcagg -3'
(R):5'- GCAGAACACAGTGCAAATAGATTTC -3'
Posted On 2014-01-05